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Article

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Journal of cellular and molecular medicine - 1 Oct 2020

Fang Xuqian, Zhang Yuwen, Cai Jialin, Lu Tingwei, Hu Junjie, Yuan Fei, Chen Peizhan

Abstract excerpt

Pituitary stalk interruption syndrome (PSIS) is a type of congenital malformation of the anterior pituitary, which leads to isolated growth hormone deficiency or multiple hypothalamic-pituitary deficiencies. Many genetic factors have been explored, but they only account for a minority of the genetic aetiology. To identify novel PSIS pathogenic genes, we conducted whole-exome sequencing with 59 sporadic PSIS...

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Identifiers

PMID: 32864857
DOI: 10.1111/jcmm.15781
PMCID: PMC7579688

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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